A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10593960



Internal ID595776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99123694..99182166hg38UCSC Ensembl
chr2:99740157..99798629hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3858473
hg1958473
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591732
Supporting Variants
SamplesHG03969
Known GenesC2orf15, LIPT1, MITD1, MRPL30, TSGA10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10593960
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer